Linked Data
ClinVar Variation Id:
2702907
ClinVar RCV Id:
RCV003577581
dbSNP Id:
rs1660575866
gnomAD v4:
1-94043451-C-T
MyVariant Identifiers:
chr1:g.94509007C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94043451C>T , CM000663.2:g.94043451C>T | GRCh38 |
| NC_000001.10:g.94509007C>T , CM000663.1:g.94509007C>T | GRCh37 |
| NC_000001.9:g.94281595C>T | NCBI36 |
| NG_009073.1:g.82699G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.3075G>A MANE Select | ENSP00000359245.3:p.Leu1025= | |
| ENST00000370225.3:c.3075G>A | ENSP00000359245.3:p.Leu1025= | |
| ENST00000536513.5:c.-64-3362G>A | ENSP00000439707.2:n.-64-3362G>A | |
| NM_000350.2:c.3075G>A | NP_000341.2:p.Leu1025= | |
| NM_000350.3:c.3075G>A MANE Select | NP_000341.2:p.Leu1025= |